Genetic background of clinical homogeneity of phenylketonuria in Poland.
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چکیده
منابع مشابه
Genetic background of clinical homogeneity of phenylketonuria in Poland.
In order to elucidate the clinical homogeneity and severity of the hyperphenylalaninaemias in Poland, a total of 71 children with typical phenylketonuria (PKU) originating from western and northern Poland were screened for 13 mutations in the phenylalanine hydroxylase (PAH) gene. Eighty percent of all PKU alleles tested were found to carry an identified mutation. One mutation, namely the R408W ...
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Biochemistry and genetics of PKU The normal route for Phe metabolism is its hydroxylation to tyrosine, catalyzed by PAH and requiring tetrahydrobiopterin as a cofactor. The human PAH gene is located on chromosome 12q23.2 and contains 13 exons. More than 500 disease-causing mutations have been identified in patients with PKU or hyperphenylalaninaemia (HPA), 67% of them being missense mutations. ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1993
ISSN: 1468-6244
DOI: 10.1136/jmg.30.3.232